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The liver is the largest organ in the body. It is found high
in the right upper abdomen, behind the ribs. It is a very complex
organ and has many functions. They include:
- Storing energy in the form of sugar (glucose)
- Storing vitamins, iron, and other minerals
- Making proteins, including blood clotting factors, to keep
the body healthy and help it grow
- Processing worn out red blood cells
- Making bile which is needed for food digestion
- Metabolizing or breaking down many medications and
alcohol
- Killing germs that enter the body through the intestine
The body absorbs iron from iron-rich foods. Iron is stored in
the liver until it is needed for important body functions.
However, too much stored iron can be harmful, and the body has no
effective way to eliminate it once it has been absorbed. This
build-up of iron causes a condition known as hemochromatosis.
What is Hemochromatosis?
Hemochromatosis is commonly known as iron overload disease. A
malfunction in the way iron is absorbed from the intestinal tract
causes the body to absorb and store too much iron. Certain
vitamins and minerals are normally stored in the liver, and iron
is one of them. However, too much iron stored in the liver can
damage it. With hemochromatosis, excess iron is also deposited in
other organs and tissues, especially the heart and pancreas,
causing damage to these organs, too. This disease occurs more
commonly than was originally thought. It is estimated that
hemochromatosis affects about one in every 300-400 people.
Occasionally, a secondary type of iron overload (called
hemosiderosis) occurs in people who take large amounts of iron
supplements, or in people who must have repeated blood
transfusions, or who have certain other diseases. However, the
body usually returns to normal processing of iron when the excess
intake is eliminated.
Cause
Exactly what makes the body absorb and store too much iron is
not completely understood. It is known that hemochromatosis is
inherited. The gene for the disease is a very common one; about
one in every 10 people carry it. However, a person can carry one
gene and not get the disease. It is only when a person gets a
hemochromatosis gene from each parent-a double dose-that the
disease develops. Therefore, people who have parents, brothers,
or sisters with this disease should be closely monitored by a
physician.
Symptoms
The disease can develop at any age, but symptoms usually do
not occur until middle age (between the ages of 40 and 60). Women
often develop the symptoms at a later age than men, probably
because women lose significant amounts of iron through
menstruation and pregnancy. The damage to the liver and other
organs comes from long-term storage of excessive iron.
When the liver is badly damaged, scarring or hardening
develops. This is called cirrhosis. Damage to the liver may also
cause jaundice (yellow color to skin and eyes). Excess iron
deposited in the pancreas causes it to stop making insulin, and
diabetes mellitus develops. Hemochromatosis can also cause
enlargement of and damage to the heart. Too much iron can be
harmful to the pituitary gland (in the brain), and this may
result in a number of hormone problems. Another common problem is
the development of arthritis. Hemochromatosis can be a perplexing
disease, because there are so many symptoms that can vary from
patient to patient.
Diagnosis
Early diagnosis is important, because treatment can prevent
long-term injury and damage to body organs. When there is a
family history of hemochromatosis, and especially if there are
symptoms present, the physician will order certain blood tests.
One of the tests is a measure of iron in the blood. Another is
for blood ferritin, a protein that carries iron. With
hemochromatosis, these tests will be abnormally high. When the
blood tests are repeated and the results are consistently high,
the physician usually diagnoses hemochromatosis. A liver biopsy
is then performed to determine how much iron is stored in the
liver and if there has been any liver damage. Liver biopsy is
done under local anesthesia. A slender needle is inserted through
the right lower chest to extract a small piece of liver for
microscopic analysis.
Treatment
Red blood cells are rich in iron, so their removal will reduce
the amount of iron in the body. Treatment begins with one to two
pints of blood being removed each week or so, until stored iron
is reduced to normal levels. It may take several months or longer
to accomplish this. After iron stores are reduced to normal, the
patient should continue to have blood drawn periodically.
Complications of hemochromatosis, such as arthritis, hormone
deficiency, heart failure, and diabetes, can be treated
successfully in most cases. If these complications have already
occurred in the patient, regular treatment with blood withdrawal
should still be done. At this stage, it can prevent further harm
and may even improve some of the damage.
How Can the Patient Help?
Alcohol seems to make the problem worse, so people with
hemochromatosis should avoid alcohol or have only an occasional
drink. A regular balanced diet is recommended, but patients
should avoid large quantities of iron rich foods, such as red
meats (especially liver) and iron fortified food products. Iron
supplements should never be taken. Even small amounts of iron
present in some multivitamin preparations can be harmful.
Liver Transplantation
Liver transplantation is now an accepted form of treatment for
chronic, severe liver damage. Advances in surgical techniques and
the use of new drugs to suppress rejection have improved the
success rate of transplantation. The outcome is excellent for
hemochromatosis patients, and with the slow progression of this
disease, it is possible to plan elective transplant surgery.
Survival rates at transplant centers are well over 90 percent
with a good quality of life after recovery.
Summary
Hemochromatosis is a common inherited disease that causes the
body to absorb and store too much iron. People with a family
history of the disease should be tested early, because symptoms
which can signal organ damage usually do not occur until late in
the disease. Hemochromatosis can be controlled, and complications
can be avoided or treated. Those patients who are diagnosed early
can look forward to a completely normal and active life.
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